Canonical Allele Identifier: CA117392

Gene: TNFRSF13B

Linked Data

• ClinVar Variation Id: 5304
• ClinVar RCV Id: RCV000005627 ; RCV000397011 ; RCV000730698 ; RCV001532954
• dbSNP Id: rs104894649
• ExAC: 17:16843666 C / T
• gnomAD v2: 17-16843666-C-T
• gnomAD v3: 17-16940352-C-T
• gnomAD v4: 17-16940352-C-T
• MyVariant Identifiers: chr17:g.16843666C>T (hg19) ; chr17:g.16940352C>T (hg38)
• PubMed: PMID:8072530 ; PMID:16007086 ; PMID:16007087 ; PMID:16299065 ; PMID:17947292

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16940352C>T , CM000679.2:g.16940352C>T	GRCh38
NC_000017.10:g.16843666C>T , CM000679.1:g.16843666C>T	GRCh37
NC_000017.9:g.16784391C>T	NCBI36
NG_007281.1:g.36737G>A , LRG_120:g.36737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261652.7:c.605G>A MANE Select	ENSP00000261652.2:p.Arg202His
ENST00000261652.6:c.605G>A	ENSP00000261652.2:p.Arg202His
ENST00000579009.1:n.711G>A
ENST00000579315.5:c.446-7176G>A	ENSP00000464069.1:n.446-7176G>A
ENST00000582931.5:n.350-7415G>A
ENST00000583789.1:c.467G>A	ENSP00000462952.1:p.Arg156His
ENST00000584950.5:c.467G>A	ENSP00000463582.1:p.Arg156His
NM_012452.2:c.605G>A , LRG_120t1:c.605G>A	NP_036584.1:p.Arg202His
NM_012452.3:c.605G>A MANE Select	NP_036584.1:p.Arg202His